Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia

ABSTRACT

Introduction: Primary ciliary dyskinesia (PCD) is a rare, mostly autosomal-recessive disorder of motile cilia, characterized by chronic lung disease, rhinosinusitis, hearing impairment, and subfertility. PCD is still often missed or diagnosed late since symptoms overlap with common respiratory complaints, but should be considered if one or more of the cardinal clues are present.

Areas covered: We provide an overview on clinical presentations of PCD and clues for when to consider PCD, these include unexplained neonatal respiratory distress, persistent rhinitis from the first days of life, situs anomalies, or otorrhoea following tympanostomy tube insertion. Diagnosis is on the basis of clinical suspicion, and an algorithm of nasal nitric oxide, ciliary beat pattern and frequency, transmission electron microscopy, immunofluorescence of ciliary proteins and genetic studies. However, there is no one gold-standard test as yet. We reviewed the current literature based on PubMed and Ovid databases literature search.

Expert commentary: There is a need for increased awareness about PCD beyond specialist respiratory clinicians and a need for standardization of PCD diagnostics internationally. Early diagnosis means that inappropriate treatment based on misdiagnosed conditions can be avoided, and the onset of bronchiectasis may be delayed.

KEYWORDS:

• Heterotaxy
• rhinorrhea
• neonatal respiratory distress
• infertility
• congenital heart disease
• chronic cough

Acknowledgments

We thank A. Shoemark, A. Dewar, T. Cox, M. Dixon and T. Burgoyne for providing microscopy images and illustrations for this article, and Hanah Mitchison and Sunayna Best for genetics data of the Brompton PCD cohort.

Declaration of interest

Bush is a senior investigator of the National Institute for Health Research. C. Hogg is part of the European Union (EU) Framework Programme 7 (Health) BESTCILIA (Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia, Project Reference 305404), EU FRAMEWORK PROGRAMME HORIZON 2020 BEAT-PCD (Better Experimental Approaches to Treat PCD funded by COST Action (BM1407). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

Additional information

Funding

This paper was supported by the National Institute for Health Research Biomedical Research Unit received by A. Bush.